Neurocutaneous melanosis: a case report

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Holguín
  • Rafael Alfredo LLauradó Robles

Abstract

Background: neurocutaneous melanosis is a non-hereditary congenital disorder characterized by the association of multiple or large pigmented nevus and an excessive proliferation of melanocytes in the central nervous system. Neurological symptoms are usually of early onset in the infant stage with convulsions of difficult control, making the forecast reserved.
Objective:
to present a case with clinical diagnosis of neurocutaneous melanosis with neurological manifestations such as seizures from the infant stage.
Clinical case:
a male patient born with a giant melanoma stain that extends from the thorax to the abdomen, inguinal region, genital and lower limbs as a dressing. In the posterior region of the back, it begins in both flanks, sacral region until the misty of both legs, presenting convulsions at one month old. Continuing the appearance of hyperpigmented spots all over the body, which at the age of life are larger darker accompanied by thick hair, with epileptic seizures refractory to treatment.
Conclusions:
this disease that is produced by the increase of melanin to the skin and the central nervous system requires a monitoring of dermal lesions and a control of seizures, considering the importance of neurodevelopmental follow-up in a multidisciplinary way for timely intervention if necessary.
DeCS: NEVUS, PIGMENTED; NEVI AND MELANOMAS; CONGENITAL ABNORMALITIES; CHILD, PRESCHOOL; CASE REPORTS.

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Author Biography

Elayne Esther Santana Hernández, Centro Provincial de Genética Holguín

Doctora en Medicina 1994.

Especialista de Primer Grado en Medicina general integral 1999.

Especialista de Primer Grado en Genética Clínica 2008.

Especialista de Segundo Grado en Medicina general integral 2012

Máster en Atención Integral al Niño 2011.

Especialista de Segundo Grado en Genética Clínica 2012.

Investigador agregado 2014

Profesor Auxiliar 2016

References

1.Criscito MC, Correa LM, Koshenkov VP, Firoz BF. Recurrent Nevi in a Skin Graft Following Excision of Giant Congenital Melanocytic Nevus. Dermatol Surg [Internet]. 2016 Sep [citado 2017 Jan 20];42(9):[about 9 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27227469

2.Chokoeva AA, Fioranelli M, Roccia MG, Lotti T, Wollina U, Tchernev G. Giant congenital melanocytic nevus in a bulgarian newborn. J Biol Regul Homeost Agents [Internet]. 2016 Apr-Jun [citado 2017 Jan 20];30:[about 9 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27373137

3.Ding JP, Chen B, Fang L, Wang LZ. Total reconstruction of giant congenital circumferential nevi of the upper limb using a large pedicle expanded flank flap: A brief report. Ann R Coll Surg Engl [Internet]. 2016 Nov [citado 2017 Jan 20];98(8):[about 2 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27652668

4.Lalor L, Busam K, Shah K. Prepubertal Melanoma Arising within a Medium-Sized Congenital Melanocytic Nevus. Pediatr Dermatol [Internet]. 2016 Nov [citado 2017 Jan 20];33(6):[about 9 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27573553

5.Bekiesinska-Figatowska M, Sawicka E, Zak K, Szczygielski O. Age related changes in brain MR appearance in the course of neurocutaneous melanosis. Eur J Radiol [Internet]. 2016 Aug [citado 2017 Jan 20];85(8):[about 5 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27423683

6.Guégan S, Kadlub N, Picard A, Rouillé T, Charbel C, Coulomb-L'Hermine A, et al. Varying proliferative and clonogenic potential in NRAS-mutated congenital melanocytic nevi according to size. Exp Dermatol [Internet]. 2016 Oct [citado 2017 Jan 20];25(10):[about 5 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27193390

7.Salgado CM, Basu D, Nikiforova M, Hamilton RL, Gehris R, Jakacki R, et al. Amplification of mutated NRAS leading to congenital melanoma in neurocutaneous melanocytosis. Melanoma Res [Internet]. 2015 Oct [citado 2017 Jan 20];25(5):[about 8 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26266759

8.Gorai S, Saha M, Seth J. Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. Indian J Dermatol [Internet]. 2016 Mar-Apr [citado 2017 Jan 20];61(2):[about 3 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27057033

9.Rao AG. Bilateral Symmetrical Congenital Giant Becker's Nevus: A Rare Presentation. Indian J Dermatol [Internet]. 2015 Sep-Oct [citado 2017 Jan 20];60(5):[about 522 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26538733

10.Captier G. The congenital melanocytic nevi of the face in child: What's new. Rev Stomatol Chir Maxillofac Chir Orale [Internet]. 2015 Sep [citado 2017 Jan 20];116(4):[about 13 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26189003

11.Ramesh R, Shaw N, Miles EK, Richard B, Colmenero I, Moss C. Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. Clin Exp Dermatol [Internet]. 2017 Jan [citado 2017 Feb 13];42(1):[about 5 p.]. Available from: http://onlinelibrary.wiley.com/doi/10.1111/ced.12969/full

12.Kinsler VA, O'Hare P, Jacques T, Hargrave D, Slater O. MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children. Br J Cancer [Internet]. 2017 Apr 11 [citado 2017 Jun 22];116(8):[about 4 p.]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/28253523

Published

2017-09-29

How to Cite

1.
Santana Hernández EE, LLauradó Robles RA. Neurocutaneous melanosis: a case report. Arch méd Camagüey [Internet]. 2017 Sep. 29 [cited 2025 Aug. 13];21(5):652-8. Available from: https://revistaamc.sld.cu/index.php/amc/article/view/5066

Issue

Section

Case Reports